Variant information

Systematic Name c.297C>G
Protein name p.Thr99Thr
Mutation type Silent
Domain MBD
Pathogenicity Silent polymorphism

Proband information

Source of DNA Blood
Detection Direct sequencing or DHPLC
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.297C>G p.Thr99Thr Silent MBD Silent polymorphism Female Rett syndrome-Not certain 1877 :::